Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
potassium-chloride transporter member 6
|
| gptkbp:associatedWith |
hereditary motor and sensory neuropathy with agenesis of the corpus callosum
Andermann syndrome |
| gptkbp:encodes |
KCC3 protein
|
| gptkbp:Entrez_Gene_ID |
6560
|
| gptkbp:expressedIn |
gptkb:nervous_system
|
| gptkbp:function |
potassium-chloride cotransporter activity
|
| gptkbp:HGNC_ID |
HGNC:10957
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC12A6
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
|
| gptkbp:memberOf |
solute carrier family 12
|
| gptkbp:mutationAssociatedWith |
neurological disorders
|
| gptkbp:OMIM |
604878
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Slc12a6
|
| gptkbp:UniProtID |
Q9UP95
|
| gptkbp:bfsParent |
gptkb:RARA
|
| gptkbp:bfsLayer |
7
|